Variant: rs121909357 

    present in Gene: GHR
    present in Chromosome: 5
    Position on Chromosome: 42694991
    Alleles of this Variant: T/C

rs121909357 in GHR gene and Laron Syndrome PMID 8504296 1993 Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

PMID 2779634 1989 Laron dwarfism and mutations of the growth hormone-receptor gene.

PMID 10870033 2000 Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.

PMID 9851797 1998 Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.

PMID 9661642 1998 A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue.

PMID 14678285 2004 The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.

PMID 9024232 1997 Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

PMID 8137822 1994 A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

PMID 8450064 1993 Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.